ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu)

gnomAD frequency: 0.00007  dbSNP: rs375915416
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262241 SCV001440036 likely benign Kabuki syndrome 1 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV001363670 SCV001559793 benign Kabuki syndrome 2024-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003135900 SCV003812657 uncertain significance not provided 2020-03-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003135900 SCV004130836 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing KMT2D: BS2

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